Neuro-oculo-cutaneous cavernous hemangiomas: a CCM1 mutation-associated phakomatosis.
Publication
, Journal Article
Labowsky, MT; Walter, SD; McDonald, MT; Mruthyunjaya, P
Published in: J AAPOS
October 2017
Evaluation for intracranial lesions in a patient with retinal cavernous hemangiomas is vital for early recognition of this heritable and potentially life-threatening disease. We report a case of a highly penetrant but variably expressed form of cerebral cavernous malformation syndrome with cerebral, cutaneous, and retinal cavernomas in a family found to harbor a nonsense mutation of the CCM1 gene.
Duke Scholars
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Published In
J AAPOS
DOI
EISSN
1528-3933
Publication Date
October 2017
Volume
21
Issue
5
Start / End Page
426 / 429.e1
Location
United States
Related Subject Headings
- Tomography, Optical Coherence
- Skin Neoplasms
- Retinal Neoplasms
- Pedigree
- Ophthalmology & Optometry
- Neurocutaneous Syndromes
- KRIT1 Protein
- Humans
- Hemangioma, Cavernous, Central Nervous System
- Hemangioma, Cavernous
Citation
APA
Chicago
ICMJE
MLA
NLM
Labowsky, M. T., Walter, S. D., McDonald, M. T., & Mruthyunjaya, P. (2017). Neuro-oculo-cutaneous cavernous hemangiomas: a CCM1 mutation-associated phakomatosis. J AAPOS, 21(5), 426-429.e1. https://doi.org/10.1016/j.jaapos.2017.06.012
Labowsky, Mary T., Scott D. Walter, Marie T. McDonald, and Prithvi Mruthyunjaya. “Neuro-oculo-cutaneous cavernous hemangiomas: a CCM1 mutation-associated phakomatosis.” J AAPOS 21, no. 5 (October 2017): 426-429.e1. https://doi.org/10.1016/j.jaapos.2017.06.012.
Labowsky MT, Walter SD, McDonald MT, Mruthyunjaya P. Neuro-oculo-cutaneous cavernous hemangiomas: a CCM1 mutation-associated phakomatosis. J AAPOS. 2017 Oct;21(5):426-429.e1.
Labowsky, Mary T., et al. “Neuro-oculo-cutaneous cavernous hemangiomas: a CCM1 mutation-associated phakomatosis.” J AAPOS, vol. 21, no. 5, Oct. 2017, pp. 426-429.e1. Pubmed, doi:10.1016/j.jaapos.2017.06.012.
Labowsky MT, Walter SD, McDonald MT, Mruthyunjaya P. Neuro-oculo-cutaneous cavernous hemangiomas: a CCM1 mutation-associated phakomatosis. J AAPOS. 2017 Oct;21(5):426-429.e1.
Published In
J AAPOS
DOI
EISSN
1528-3933
Publication Date
October 2017
Volume
21
Issue
5
Start / End Page
426 / 429.e1
Location
United States
Related Subject Headings
- Tomography, Optical Coherence
- Skin Neoplasms
- Retinal Neoplasms
- Pedigree
- Ophthalmology & Optometry
- Neurocutaneous Syndromes
- KRIT1 Protein
- Humans
- Hemangioma, Cavernous, Central Nervous System
- Hemangioma, Cavernous